Canonical Allele Identifier: CA394304188

Gene: GFER

Linked Data

• dbSNP Id: rs1220148687
• gnomAD v4: 16-1985939-G-C
• MyVariant Identifiers: chr16:g.2035940G>C (hg19) ; chr16:g.1985939G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1985939G>C , CM000678.2:g.1985939G>C	GRCh38
NC_000016.9:g.2035940G>C , CM000678.1:g.2035940G>C	GRCh37
NC_000016.8:g.1975941G>C	NCBI36
NG_016288.1:g.6791G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567719.2:c.304G>C	ENSP00000455885.1:p.Val102Leu
ENST00000248114.7:c.529G>C MANE Select	ENSP00000248114.6:p.Val177Leu
ENST00000248114.6:c.529G>C	ENSP00000248114.6:p.Val177Leu
ENST00000565658.1:n.686G>C
ENST00000567719.1:c.304G>C	ENSP00000455885.1:p.Val102Leu
ENST00000569451.1:c.*2G>C	ENSP00000456432.1:n.*2G>C
NM_005262.2:c.529G>C	NP_005253.3:p.Val177Leu
NM_005262.3:c.529G>C MANE Select	NP_005253.3:p.Val177Leu